Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.29596110C>G , CM000677.2:g.29596110C>G | GRCh38 |
| NC_000015.9:g.29888314C>G , CM000677.1:g.29888314C>G | GRCh37 |
| NC_000015.8:g.27675606C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001387215.1:c.-70+78989G>C | NP_001374144.1:n.-70+78989G>C | |
| NM_001387216.1:c.-70+78989G>C | NP_001374145.1:n.-70+78989G>C | |
| NM_001387217.1:c.-70+78989G>C | NP_001374146.1:n.-70+78989G>C |